regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP97_chr4_185154665_185209000 | 185202038 | TCCC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0002a0002c0013others(4): Show | a0001c0007t0011a0002c0002t0001a0002c0002t0012others(8): Show | a0001c0007t0011g0030a0001c0007t0011g0278a0002c0002t0001g0002others(113): Show | 140 | 350 | 0.4000 | -3 | c.-17 others(20): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2429593 | CTTT | C | intron_variant | MODIFIER | HG02155.hp2 HG03041.hp2 HG06807.hp1 others(4): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0012t0001others(2): Show | a0001c0002t0001g0062a0001c0002t0001g0307a0001c0003t0001g0087others(4): Show | 7 | 350 | 0.0200 | -3 | c.111 others(20): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2436639 | CTCA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(122): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0013others(15): Show | a0001c0002t0001a0001c0003t0001a0001c0013t0001others(16): Show | a0001c0002t0001g0018a0001c0002t0001g0287a0001c0002t0001g0288others(104): Show | 125 | 350 | 0.3571 | -3 | c.112 others(18): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2446368 | GTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(21): Show |
a0001a0007a0008 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(4): Show | a0001c0002t0001g0092a0001c0002t0001g0093a0001c0002t0001g0220others(19): Show | 24 | 350 | 0.0686 | -3 | c.642 others(20): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFB_chr6_31941095_31957084 | 31948714 | AATG | A | intron_variant | MODIFIER | HG02698.hp2 HG03225.hp1 HG03710.hp2 others(11): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0008a0003c0006t0001g0029a0003c0006t0001g0030 | 14 | 431 | 0.0325 | -3 | c.103 others(20): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFC1_chr2_130587165_130604575 | 130588083 | ATTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(15): Show | 79 | 242 | 0.3265 | -3 | c.*47 others(14): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4081 | chr2 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75291861 | TCTC | T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(8): Show | 11 | 314 | 0.0350 | -3 | c.*20 others(14): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1848 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75316569 | TAAA | T | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(4): Show | 7 | 314 | 0.0223 | -3 | c.651 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75353748 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0118others(4): Show | 7 | 314 | 0.0223 | -3 | c.650 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75364152 | CAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(5): Show | 8 | 314 | 0.0255 | -3 | c.650 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75399967 | GGCA | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(36): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0002g0147others(36): Show | 39 | 314 | 0.1242 | -3 | c.531 others(20): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75410055 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0045a0001c0001t0001g0061others(117): Show | 120 | 314 | 0.3822 | -3 | c.530 others(20): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75413552 | CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(88): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0034a0001c0001t0001g0045others(88): Show | 91 | 314 | 0.2898 | -3 | c.183 others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75418306 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(119): Show | 122 | 314 | 0.3885 | -3 | c.65- others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75418732 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(130): Show | 133 | 314 | 0.4236 | -3 | c.65- others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75425390 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(123): Show | 126 | 314 | 0.4013 | -3 | c.64+ others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75426035 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(106): Show | 109 | 314 | 0.3471 | -3 | c.64+ others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75427833 | AAAC | A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 NA18979.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0251a0001c0001t0001g0252others(1): Show | 4 | 314 | 0.0127 | -3 | c.64+ others(18): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196827544 | ATTC | A | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0008 | a0003c0005a0008c0008 | a0003c0005t0001a0008c0008t0001 | a0003c0005t0001g0008a0008c0008t0001g0008 | 5 | 275 | 0.0182 | -3 | c.431 others(18): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR1_chr1_196814731_196837189 | 196828795 | GTTT | G | intron_variant | MODIFIER | NA18939.hp2 NA18940.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022a0001c0002t0002g0034a0001c0002t0002g0035 | 7 | 275 | 0.0255 | -3 | c.607 others(18): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196771586 | GTTT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(107): Show |
a0002a0005a0006 | a0002c0001a0005c0007a0006c0008 | a0002c0001t0002a0002c0001t0008a0002c0001t0009others(4): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(54): Show | 110 | 261 | 0.4215 | -3 | c.-33 others(14): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 3253 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196774100 | TGGG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(106): Show |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0002a0002c0001t0008a0002c0001t0009others(3): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(53): Show | 109 | 261 | 0.4176 | -3 | c.-78 others(12): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 739 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196777982 | TAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0002a0002c0001t0003a0002c0001t0008others(4): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(56): Show | 115 | 261 | 0.4406 | -3 | c.59- others(18): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR4_chr1_196883052_196923633 | 196889769 | TGAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(59): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0018 | a0001c0001t0001a0002c0002t0001a0009c0018t0001 | a0001c0001t0001g0072a0002c0002t0001g0002a0002c0002t0001g0005others(25): Show | 62 | 350 | 0.1771 | -3 | c.58+ others(18): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196657827 | GAAT | G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01891.hp1 others(22): Show |
a0001a0014a0016 | a0001c0001a0001c0010a0014c0018others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(2): Show | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(22): Show | 25 | 308 | 0.0812 | -3 | c.58+ others(18): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196687971 | CATA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001a0007c0007t0002g0022a0007c0007t0002g0024others(1): Show | 5 | 308 | 0.0162 | -3 | c.965 others(20): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692245 | TTAA | T | intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG02809.hp1 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0069a0008c0009t0001g0127a0008c0009t0001g0147others(1): Show | 4 | 308 | 0.0130 | -3 | c.133 others(22): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196702537 | AAAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp2 others(9): Show |
a0001a0011a0012others(1): Show | a0001c0001a0011c0012a0012c0011others(1): Show | a0001c0001t0001a0011c0012t0001a0012c0011t0001others(1): Show | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(9): Show | 12 | 308 | 0.0390 | -3 | c.133 others(24): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196724665 | TATG | T | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02258.hp1 others(7): Show |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0001a0012c0011t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(7): Show | 10 | 308 | 0.0325 | -3 | c.169 others(20): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196746828 | AATG | A | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG03225.hp2 |
a0011a0021 | a0011c0012a0021c0025 | a0011c0012t0001a0021c0025t0001 | a0011c0012t0001g0164a0011c0012t0001g0175a0021c0025t0001g0194 | 3 | 308 | 0.0097 | -3 | c.349 others(20): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196749331 | AGAC | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001a0007c0007t0002g0022a0007c0007t0002g0024others(1): Show | 5 | 308 | 0.0162 | -3 | c.*20 others(14): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1828 | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109738112 | CTTT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02896.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0220a0001c0001t0001g0270a0001c0001t0001g0350others(3): Show | 6 | 354 | 0.0170 | -3 | c.*27 others(14): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 2582 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753150 | TTTA | T | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0175a0001c0002t0001g0176a0001c0002t0001g0177others(1): Show | 4 | 354 | 0.0113 | -3 | c.905 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753293 | TATA | T | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01928.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0160a0001c0001t0001g0248a0001c0001t0001g0252others(18): Show | 21 | 354 | 0.0593 | -3 | c.905 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753352 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(224): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(221): Show | 227 | 354 | 0.6412 | -3 | c.905 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753404 | TTTA | T | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0008 | a0001c0002t0001a0001c0006t0005a0001c0008t0001others(1): Show | a0001c0002t0001g0086a0001c0006t0005g0041a0001c0006t0005g0042others(2): Show | 5 | 354 | 0.0141 | -3 | c.905 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753441 | TATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(82): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(6): Show | a0001c0001t0001g0187a0001c0001t0001g0194a0001c0001t0001g0200others(81): Show | 85 | 354 | 0.2401 | -3 | c.905 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753573 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(84): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0017others(83): Show | 87 | 354 | 0.2458 | -3 | c.905 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756387 | GGAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(167): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(164): Show | 170 | 354 | 0.4802 | -3 | c.904 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756440 | AAGG | A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp1 others(74): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0005a0005c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0004c0005t0001others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0022others(73): Show | 77 | 354 | 0.2175 | -3 | c.904 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109771714 | CAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp1 HG02055.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0275a0001c0001t0001g0276others(8): Show | 11 | 354 | 0.0311 | -3 | c.58- others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109781879 | CACA | C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01256.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0156a0001c0001t0001g0211a0001c0001t0001g0212others(8): Show | 11 | 354 | 0.0311 | -3 | c.58- others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109800321 | GTTT | G | intron_variant | MODIFIER | HG01515.hp2 HG02486.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0305a0001c0001t0001g0328a0001c0001t0001g0330others(7): Show | 10 | 354 | 0.0283 | -3 | c.57+ others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109804674 | CTCT | C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02080.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0312a0001c0001t0001g0313a0001c0001t0001g0319others(17): Show | 20 | 354 | 0.0565 | -3 | c.-27 others(14): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 2676 | chr4 | TogoVar | ||||||
CFL1_chr11_65849673_65863180 | 65850970 | AAGG | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 10 | 394 | 0.0254 | -3 | c.*43 others(14): Show |
CFL1 | ENSG00000172757.13 | transcript | ENST00000308162.10 | protein_coding | 3702 | chr11 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34706061 | ATTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(14): Show | a0001c0001t0003g0003a0001c0001t0003g0055a0001c0001t0003g0072others(19): Show | 109 | 431 | 0.2529 | -3 | c.*68 others(14): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 3051 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34711567 | AAAG | A | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02280.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0019 | 3 | 431 | 0.0070 | -3 | c.*12 others(14): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4/4 | 1295 | chr14 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34713200 | GATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(223): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0065others(34): Show | 226 | 431 | 0.5244 | -3 | c.311 others(16): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34713939 | TCTA | T | intron_variant | MODIFIER | NA18954.hp2 NA18966.hp1 NA18992.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 7 | 431 | 0.0162 | -3 | c.4-3 others(14): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201133928 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(40): Show |
a0001a0003 | a0001c0002a0001c0007a0003c0008 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(23): Show | a0001c0002t0007g0006a0001c0002t0007g0036a0001c0002t0007g0037others(38): Show | 43 | 234 | 0.1838 | -3 | c.387 others(18): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |